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Chong Ae Kim

universidade de sao paulo

66H指数
538论文数
2.0W被引数
收录论文 91
发表时间
Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant
errGenes
IF2.8
err2026-01-26
err0
errOAAI
errLarissa Salustiano Evangelista Pimenta; Claudia Berlim de Mello; Guilherme V. Polanczyk; Leslie Domenici Kulikowski; Maria Isabel Melaragno; Chong Ae Kim
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Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network揭示巴西黏多糖贮积症IIIC型:通过MPS Brazil网络识别的巴西患者的诊断历程与临床特征
err2025-12-27
err0
errOAAI
errYorran Hardman Araújo Montenegro; Maria Fernanda Antero Alves; Simone Silva dos Santos-Lopes; Carolina Fischinger Moura de Souza; Fabiano de Oliveira Poswar; Ana Carolina Brusius-Facchin; Fernanda Bender-Pasetto; Kristiane Michelin-Tirelli; Fernanda Medeiros Sebastião; Franciele Barbosa Trapp; Erlane Marques Ribeiro; Paula Frassinetti Vasconcelos de Medeiros; Chong Ae Kim; Emilia Katiane Embiraçu; Mariluce Riegel-Giugliani; Guilherme Baldo; Roberto Giugliani
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Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders单等位基因和双等位基因RNU4-2变异在神经发育障碍中的作用
err2025-12-17
err0
PREAI
errYukina Hayashi; Kenta Kajiwara; Seiji Mizuno; Nobuhiko Okamoto; Mei Yan Chan; Tomohide Goto; Seiichi Hayakawa; Mitsuhiro Kato; Chong Ae Kim; Dorit Lev; Lip Hen Moey; Juliet Taylor; Nerine Gregersen; Ifat Nezer-Kaner; Wee Teik Keng; Satoshi Okada; Hitoshi Osaka; Tally Sagie; Yasunari Sakai; Katsuya Tashiro; Patrick Yap; Li Fu; Kazuhiro Iwama; Qiaowei Liang; Naoto Nishimura; Suzuran Saito; Masamune Sakamoto; Yasuhiro Utsuno; Naomi Tsuchida; Yuri Uchiyama; Eriko Koshimizu; Kohei Hamanaka; Satoko Miyatake; Takeshi Mizuguchi; Atsushi Fujita; Naomichi Matsumoto
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Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability更正:新型复合杂合ABCA2变异导致IDPOGSA,一种具有智力障碍的变异表型综合征。
err2025-11-10
err0
PREAI
errYuta Inoue; Naomi Tsuchida; Chong Ae Kim; Bruno de Oliveira Stephan; Matheus Augusto Araujo Castro; Rachel Sayuri Honjo; Debora Romeo Bertola; Yuri Uchiyama; Kohei Hamanaka; Atsushi Fujita; Eriko Koshimizu; Kazuharu Misawa; Satoko Miyatake; Takeshi Mizuguchi; Naomichi Matsumoto
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function致病性UNC13A变异通过损害突触功能导致神经发育综合征
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants巴西Cornelia de Lange综合征伴NIPBL变异患者的眼科发现
err2025-10-14
err0
errOAAI
errVilella, Thaina; Nunes, Beatriz Carvalho; Del Valle, Giulia Steuernagel; Pinheiro, Isabel Furquim; Aoi, Hiromi; Mizuguchi, Takeshi; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Kim, Chong Ae; Sallum, Juliana Maria Ferraz; Melaragno, Maria Isabel; Cristovam, Priscila Cardoso
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Clinical utility of multitissue genomic arrays in diagnosing pigmentary mosaicism associated with neurodevelopmental delay多组织基因组芯片在诊断与神经发育迟缓相关的色素性嵌合症中的临床应用价值
err2025-10-04
err0
PREAI
errYanca Gasparini Oliveira; Marilia Moreira Montenegro; Vanessa Tavares Almeida; Eder Alencar Moura; Amom Mendes Nascimento; Gleyson Francisco da Silva Carvalho; Evelin Aline Zanardo; Samar Nasser Chehimi; Beatriz Martins Wolff; Lucas Liro Vieira; Mariana Ribeiro Costa Siemann; Rafaela da Silva Mendes; Lissandro de Sousa Rolim; Karina Marinho Nascimento; Chong Ae Kim; Leslie Domenici Kulikowski
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Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay基因组测序为智力障碍和发育迟缓提供了高诊断率和新的病因学见解。
err2025-08-26
err0
errOAAI
errKohei Hamanaka; Atsushi Fujita; Satoko Miyatake; Kazuharu Misawa; Eriko Koshimizu; Yuri Uchiyama; Naomi Tsuchida; Rie Seyama; Masamune Sakamoto; Kazuhiro Iwama; Naoto Nishimura; Yasuhiro Utsuno; Li Fu; Marina Takizawa; Qiaowei Liang; Toshiyuki Itai; Ken Saida; Sachiko Ohori; Shinichi Kameyama; Hiromi Fukuda; Yukina Hayashi; Yuta Inoue; Tomohide Goto; Kazushi Ichikawa; Ichiro Kuki; Masataka Fukuoka; Kiyohiro Kim; Tadashi Shiohama; Konomi Shimoda; Kosuke Otsuka; Yuki Ueda; Kazutoshi Cho; Kotaro Yuge; Nobutada Tachi; Masaki Yoshida; Atsuro Daida; Kyoko Hirasawa; Tomoe Yanagishita; Toshiyuki Yamamoto; Kentaro Shirai; Tammar Fixler Mehr; Aviva Fattal-Valevski; Dorit Lev; Haruna Yokoyama; Emi Iwabuchi; Yoshihiko Saito; Masaki Miura; Kenji Sugai; Akihiko Ishiyama; Masayuki Sasaki; Yoshihiro Watanabe; Jun-ichi Takanashi; Chong Ae Kim; Kenji Yokochi; Jun Tohyama; Tatsuo Mori; Yuishin Izumi; Yuiko Hasegawa; Nobuhiko Okamoto; Takahiro Ikeda; Hitoshi Osaka; Yosuke Kawai; Yosuke Omae; Katsushi Tokunaga; Mitsuhiro Kato; Takeshi Mizuguchi; Naomichi Matsumoto
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Population pharmacokinetics and exposure-response analysis of durvalumab in combination with gemcitabine and cisplatin in patients with advanced biliary tract cancer度伐利尤单抗联合吉西他滨和顺铂在晚期胆道癌患者中的群体药代动力学和暴露-反应分析
err2025-01-17
err0
errOAAI
errAbegesah, Aburough; Oh, Do-Youn; Lim, Kyoungsoo; Fan, Chunling; Chen, Cecil; Kim, Chong; Wang, Julie; Xynos, Ioannis; Zotkiewicz, Magdalena; Ren, Song; Phipps, Alex; Gibbs, Megan; Zhou, Diansong
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Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network巴西罕见病的流行病学特征:巴西罕见病网络的回顾性研究
err2024-10-30
err2
errOAAI
errde Oliveira, Bibiana Mello; Bernardi, Filipe Andrade; Baiochi, Joao Francisco; Neiva, Mariane Barros; Artifon, Milena; Vergara, Alberto Andrade; Martins, Ana Maria; Grumach, Anete Sevciovic; Acosta, Angelina Xavier; El Husny, Antonette Souto; Ribeiro, Bethania de Freitas Rodrigues; Ramos, Camila Ferreira; Steiner, Carlos Eduardo; Kim, Chong Ae; Christofolini, Denise Maria; Yamada, Diego Bettiol; Carvalho, Ellaine Doris Fernandes; Ribeiro, Erlane Marques; Bastos, Fabiola de Arruda; Serpa, Faradiba Sarquis; Brandao, Flavia Reseda; Adjuto, Giselle Maria Araujo Felix; Carvalho, Isabelle; Saute, Jonas Alex Morales; Llerena Junior, Juan Clinton; Bueno, Larissa Souza Mario; da Silva, Luiz Carlos Santana; Santos, Mara Lucia Schmitz Ferreira; Costa, Marcela Camara Machado; Giusti, Marcia Maria Costa Giacon; Galera, Marcial Francis; Colombo Filho, Marcio Eloi; de Andrade, Maria Denise Fernandes Carvalho; Cardoso, Maria Teresinha De Oliveira; Ferreira, Marilaine Matos de Menezes; Zeny, Michelle; Caldato, Milena Coelho Fernandes; Sorte, Ney Boa; Musolino, Nina Rosa de Castro; de Medeiros, Paula Frassinetti Vasconcelos; Zen, Paulo Ricardo Gazzola; Da Silva, Raquel Tavares Boy; Maia, Rayana Elias; Fock, Rodrigo; Almeida, Rosemarie Elizabeth Schimidt; Valle, Solange Oliveira Rodrigues; Amorim, Tatiana; Teixeira, Thais Bomfim; Prazeres, Vania Mesquita Gadelha; Ferraz, Victor Evangelista de Faria; Lima, Vinicius Costa; Paiva, Wagner Jose Martins; Schwartz, Ida Vanessa Doederlein; Alves, Domingos; Felix, Temis Maria
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Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy
err2023-06-07
err10
errOAAI
errOhori, Sachiko; Miyauchi, Akihiko; Osaka, Hitoshi; Lourenco, Charles Marques; Arakaki, Naohiro; Sengoku, Toru; Ogata, Kazuhiro; Honjo, Rachel Sayuri; Kim, Chong Ae; Mitsuhashi, Satomi; Frith, Martin C.; Seyama, Rie; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Hamanaka, Kohei; Misawa, Kazuharu; Miyatake, Satoko; Saito, Kuniaki; Mizuguchi, Takeshi; Fujita, Atsushi; Matsumoto, Naomichi
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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
err2023-04-13
err5
PREAI
errDi Lazzaro Filho, Ricardo; Yamamoto, Guilherme Lopes; Silva, Tiago J.; Rocha, Leticia A.; Linnenkamp, Bianca D. W.; Castro, Matheus Augusto Araujo; Bartholdi, Deborah; Schaller, Andre; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y.; Steiner, Carlos E.; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae; Wang, Lisa; Abourjaili-Bilodeau, Raphael; Campeau, Philippe; Warman, Matthew; Passos-Bueno, Maria Rita; Hoch, Nicolas C.; Bertola, Debora Romeo
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Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion
err2023-01-01
err2
PREAI
errMontenegro, Marilia Moreira; Camilotti, Debora; Quaio, Caio Robledo D'Anglioli Costa; Gasparini, Yanca; Zanardo, Evelin Aline; Rangel-Santos, Andreia; Novo-Filho, Gil Monteiro; Francisco, Gleyson; Liro, Lucas; Nascimento, Amom; Chehimi, Samar Nasser; Soares, Diogo Cordeiro Queiroz; Krepischi, Ana C. V.; Grassi, Marcilia Sierro; Honjo, Rachel Sayuri; Palmeira, Patricia; Kim, Chong Ae; Carneiro-Sampaio, Magda Maria Sales; Rosenberg, Carla; Kulikowski, Leslie Domenici
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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
err2023-01-01
err15
errOAAI
errSaida, Ken; Marootain, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O'Brian, Thomas J.; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Takizawa, Marina; Ohori, Sachiko; Leong, Huey Yin; Akay, Gulsen; Galehdari, Hamid; Zamani, Mina; Romy, Ratna; Carroll, Christopher J.; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Malek, Hadis; Ahangari, Najmeh; Tomoum, Hoda; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Murphy, David; Dominik, Natalia; Elbendary, Hasnaa M.; Rafat, Karima; Yilmaz, Sanem; Kanmaz, Seda; Serin, Mine; Krishnakumar, Deepa; Gardham, Alice; Maw, Anna; Rao, Tekki Sreenivasa; Alsubhi, Sarah; Srour, Myriam; Buhas, Daniela; Jewett, Tamison; Goldberg, Rachel E.; Shamseldin, Hanan; Frengen, Eirik; Misceo, Doriana; Stromme, Petter; Ceroni, Jose Ricardo Magliocco; Kim, Chong Ae; Yesil, Gozde; Sengenc, Esma; Guler, Serhat; Hull, Mariam; Parnes, Mered; Aktas, Dilek; Anlar, Banu; Bayram, Yavuz; Pehlivan, Davut; Posey, Jennifer E.; Alayi, Shahryar; Manshadi, Seyed Ali Madani; Alzaidan, Hamad; Al-Owain, Mohammad; Alabdi, Lama; Abdulwahab, Ferdous; Sekiguchi, Futoshi; Hamanaka, Kohei; Fujita, Atsushi; Uchiyama, Yuri; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Elshafie, Reem M.; Salayev, Kamran; Guliyeva, Ulviyya; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Monaghan, Kristin G.; Langley, Katherine G.; Yang, Hui; Motavaf, Mahsa; Safari, Saeid; Alipour, Mozhgan; Ogata, Kazuhiro; Brown, Andre E. X.; Lupski, James R.; Houlden, Henry; Matsumoto, Naomichi
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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
err2022-12-11
err4
PREAI
errTolezano, Giovanna Cantini; Bastos, Giovanna Civitate; da Costa, Silvia Souza; Freire, Bruna Lucheze; Homma, Thais Kataoka; Honjo, Rachel Sayuri; Yamamoto, Guilherme Lopes; Passos-Bueno, Maria Rita; Koiffmann, Celia Priszkulnik; Kim, Chong Ae; Vianna-Morgante, Angela Maria; Jorge, Alexander Augusto de Lima; Bertola, Debora Romeo; Rosenberg, Carla; Krepischi, Ana Cristina Victorino
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Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy儿童小脑发育不全和萎缩的遗传和临床景观
err2022-12-01
err2
errOAAI
errSakamoto, Masamune; Iwama, Kazuhiro; Sasaki, Masayuki; Ishiyama, Akihiko; Komaki, Hirofumi; Saito, Takashi; Takeshita, Eri; Shimizu-Motohashi, Yuko; Haginoya, Kazuhiro; Kobayashi, Tomoko; Goto, Tomohide; Tsuyusaki, Yu; Iai, Mizue; Kurosawa, Kenji; Osaka, Hitoshi; Tohyama, Jun; Kobayashi, Yu; Okamoto, Nobuhiko; Suzuki, Yume; Kumada, Satoko; Inoue, Kenji; Mashimo, Hideaki; Arisaka, Atsuko; Kuki, Ichiro; Saijo, Harumi; Yokochi, Kenji; Kato, Mitsuhiro; Inaba, Yuji; Gomi, Yuko; Saitoh, Shinji; Shirai, Kentaro; Morimoto, Masafumi; Izumi, Yuishin; Watanabe, Yoriko; Nagamitsu, Shin-ichiro; Sakai, Yasunari; Fukumura, Shinobu; Muramatsu, Kazuhiro; Ogata, Tomomi; Yamada, Keitaro; Ishigaki, Keiko; Hirasawa, Kyoko; Shimoda, Konomi; Akasaka, Manami; Kohashi, Kosuke; Sakakibara, Takafumi; Ikuno, Masashi; Sugino, Noriko; Yonekawa, Takahiro; Gursoy, Semra; Cinleti, Tayfun; Kim, Chong Ae; Teik, Keng Wee; Yan, Chan Mei; Haniffa, Muzhirah; Ohba, Chihiro; Ito, Shuuichi; Saitsu, Hirotomo; Saida, Ken; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi; Miyake, Noriko; Matsumoto, Naomichi
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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders1 p13.3的严格计算机基因组询问揭示了综合征性神经发育障碍中的16个常染色体显性候选基因
err2022-10-06
err5
errOAAI
errBen-Mahmoud, Afif; Jun, Kyung Ran; Gupta, Vijay; Shastri, Pinang; de la Fuente, Alberto; Park, Yongsoo; Shin, Kyung Chul; Kim, Chong Ae; da Cruz, Aparecido Divino; Pinto, Irene Plaza; Minasi, Lysa Bernardes; da Cruz, Alex Silva; Faivre, Laurence; Callier, Patrick; Racine, Caroline; Layman, Lawrence C. C.; Kong, Il-Keun; Kim, Cheol-Hee; Kim, Woo-Yang; Kim, Hyung-Goo
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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
err2022-09-01
err3
errOAAI
errSeyama, Rie; Uchiyama, Yuri; Ceroni, Jose Ricard Magliocco; Kim, Veronica Eun Hue; Furquim, Isabel; Honjo, Rachel Sayuri; Castro, Matheus Augusto Araujo; Pires, Lucas Vieira Lacerda; Aoi, Hiromi; Iwama, Kazuhiro; Hamanaka, Kohei; Fujita, Atsushi; Tsuchida, Naomi; Koshimizu, Eriko; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi; Makino, Shintaro; Itakura, Atsuo; Bertola, Debora R.; Kim, Chong Ae; Matsumoto, Naomichi
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Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases
err2022-05-11
err3
errOAAI
errD'Angioli Costa Quaio, Caio Robledo; Magliocco Ceroni, Jose Ricardo; Cervato, Murilo Castro; Thurow, Helena Strelow; Moreira, Caroline Monaco; Gomes Trindade, Ana Carolina; Furuzawa, Cintia Reys; Floriano de Souza, Rafaela Rogerio; Perazzio, Sandro Felix; Dutra, Aurelio Pimenta; Chung, Christine Hsiaoyun; Kim, Chong Ae
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